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Article

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.

Immunologic research - 1 Dec 2022

Kristal Eyal, Nahum Amit, Ling Galina, Broides Arnon, Shubinsky George, Eskin-Schwartz Marina, Hadar Noam, Progador Omri, Birk Ohad

Abstract excerpt

Tricho-hepato-enteric syndrome (THES) (OMIM #222,470) is a rare autosomal recessive syndromic enteropathy whose primary manifestations are dysmorphism, intractable diarrhea, failure to thrive, hair abnormalities, liver disease, and immunodeficiency with low serum IgG concentrations. THES is caused by mutations of either Tetratricopeptide Repeat Domain 37 (TTC37) or Ski2 like RNA Helicase (SKIV2L), genes that...

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PMID: 35776314
DOI: 10.1007/s12026-022-09305-9

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Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.PMID 35776314Read ↗

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